regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLT3_chr13_27998274_28105576 | 27998945 | T | TTATATGC others(863): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0103 | 1 | 292 | 0.0034 | 870 | c.*51 others(881): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4328 | chr13 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0280 | 1 | 366 | 0.0027 | 870 | c.666 others(887): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HCN2_chr19_584881_622159 | 602415 | T | TCCTCCTC others(863): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0370 | 1 | 408 | 0.0025 | 870 | c.633 others(887): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
IL3RA_chrX_1331785_1387689 | 1361136 | T | TCTCTGTC others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0066 | 1 | 115 | 0.0087 | 870 | c.759 others(887): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(863): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 408 | 0.0025 | 870 | c.-30 others(881): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(863): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA18941.hp1 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 3 | 408 | 0.0074 | 870 | c.-30 others(881): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(863): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 370 | 0.0027 | 870 | c.-27 others(881): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(863): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 370 | 0.0027 | 870 | c.-27 others(881): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(863): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 186 | 0.0054 | 870 | c.956 others(887): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(863): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 186 | 0.0054 | 870 | c.956 others(887): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(863): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0030a0001c0001t0006g0221a0001c0001t0009g0043 | 3 | 236 | 0.0127 | 870 | c.193 others(889): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(863): Show |
upstream_gene_variant | MODIFIER | NA18978.hp1 NA19091.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 2 | 422 | 0.0047 | 870 | c.-30 others(881): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(863): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01255.hp2 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0015a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0099a0001c0001t0001g0116a0001c0001t0002g0158others(11): Show | 14 | 276 | 0.0507 | 870 | c.100 others(889): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GGGAAGGG others(863): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0258 | 1 | 272 | 0.0037 | 870 | c.250 others(885): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(863): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0041 | 1 | 272 | 0.0037 | 870 | c.250 others(885): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(863): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 378 | 0.0027 | 870 | c.147 others(889): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 NA19057.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0069a0003c0003t0002g0073a0003c0003t0002g0079others(2): Show | 5 | 346 | 0.0145 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0341 | 1 | 346 | 0.0029 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(863): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0081 | 1 | 346 | 0.0029 | 870 | c.176 others(889): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398256 | A | ATCACCTC others(863): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0018 | a0018c0026 | a0018c0026t0004 | a0018c0026t0004g0092 | 1 | 216 | 0.0046 | 870 | c.106 others(887): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(863): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 312 | 0.0032 | 870 | c.306 others(889): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492388 | A | AGCCCTCC others(863): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0150 | 1 | 295 | 0.0034 | 870 | c.126 others(889): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(863): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG01981.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0006a0001c0001t0002g0060a0001c0001t0002g0166others(7): Show | 10 | 220 | 0.0455 | 870 | c.24+ others(887): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(863): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0150 | 1 | 220 | 0.0046 | 870 | c.24+ others(887): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAPGEF1_chr9_131571775_131745076 | 131586845 | C | CACACACA others(863): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0060 | 1 | 368 | 0.0027 | 870 | c.323 others(887): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0012 | a0012c0015 | a0012c0015t0010 | a0012c0015t0010g0027 | 1 | 324 | 0.0031 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078446 | G | GGCTGAGG others(863): Show |
upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0022 | 1 | 324 | 0.0031 | 870 | c.-44 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4141 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078543 | G | GCTATGGG others(863): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0002 | a0002c0003 | a0002c0003t0016 | a0002c0003t0016g0024 | 1 | 324 | 0.0031 | 870 | c.-45 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4238 | chr1 | TogoVar | ||||||
RNF223_chr1_1065967_1079306 | 1078543 | G | GCTATGGG others(863): Show |
upstream_gene_variant | MODIFIER | HG01167.hp1 HG01256.hp2 HG01346.hp2 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 7 | 324 | 0.0216 | 870 | c.-45 others(881): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4238 | chr1 | TogoVar | ||||||
SLC6A11_chr3_10811228_10945714 | 10873397 | A | ATCCTATC others(863): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 362 | 0.0028 | 870 | c.757 others(887): Show |
SLC6A11 | ENSG00000132164.10 | transcript | ENST00000254488.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(863): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0002a0001c0001t0007g0002 | 5 | 420 | 0.0119 | 870 | c.*36 others(881): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(863): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp2 others(1): Show |
a0007a0019 | a0007c0016a0019c0053 | a0007c0016t0001a0019c0053t0001 | a0007c0016t0001g0156a0007c0016t0001g0158a0007c0016t0001g0159others(1): Show | 4 | 268 | 0.0149 | 870 | c.266 others(887): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185900 | C | CAGATGTT others(863): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0129 | 1 | 348 | 0.0029 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121185900 | C | CAGATGTT others(863): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02109.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0003 | a0001c0011a0001c0014a0002c0051others(1): Show | a0001c0011t0002a0001c0014t0002a0002c0051t0002others(1): Show | a0001c0011t0002g0313a0001c0014t0002g0323a0002c0051t0002g0306others(6): Show | 9 | 348 | 0.0259 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0023 | a0001c0023t0002 | a0001c0023t0002g0098 | 1 | 348 | 0.0029 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(33): Show |
a0002a0003a0006others(4): Show | a0002c0008a0003c0004a0003c0043others(5): Show | a0002c0008t0002a0003c0004t0002a0003c0004t0003others(7): Show | a0002c0008t0002g0013a0002c0008t0002g0243a0002c0008t0002g0245others(32): Show | 36 | 348 | 0.1035 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0039 | 1 | 348 | 0.0029 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0025 | a0025c0036 | a0025c0036t0002 | a0025c0036t0002g0274 | 1 | 348 | 0.0029 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TECTA_chr11_121096243_121196490 | 121186061 | G | GAATGAGT others(863): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0244 | 1 | 348 | 0.0029 | 870 | c.600 others(889): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(863): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0121 | 1 | 174 | 0.0058 | 870 | c.41- others(887): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBGCP3_chr13_112480011_112593153 | 112540467 | C | CCTATGAG others(863): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 | 1 | 312 | 0.0032 | 870 | c.133 others(889): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 11/21 | chr13 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870617 | A | ACACACAC others(863): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 338 | 0.0030 | 870 | c.*35 others(889): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(863): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0211 | 1 | 246 | 0.0041 | 870 | c.-10 others(887): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF16_chr8_144925358_144955880 | 144946625 | T | TGGGCCTG others(863): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 404 | 0.0025 | 870 | c.-9- others(883): Show |
ZNF16 | ENSG00000170631.15 | transcript | ENST00000394909.7 | protein_coding | 1/2 | chr8 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(864): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0032 | a0032c0108 | a0032c0108t0004 | a0032c0108t0004g0061 | 1 | 360 | 0.0028 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(864): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0031 | a0031c0109 | a0031c0109t0022 | a0031c0109t0022g0356 | 1 | 360 | 0.0028 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0071 | a0071c0044 | a0071c0044t0001 | a0071c0044t0001g0130 | 1 | 360 | 0.0028 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0288 | 1 | 360 | 0.0028 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(864): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02630.hp2 HG02647.hp2 others(3): Show |
a0007a0008a0010others(2): Show | a0007c0011a0008c0009a0010c0026others(3): Show | a0007c0011t0004a0008c0009t0001a0010c0026t0006others(3): Show | a0007c0011t0004g0067a0008c0009t0001g0230a0010c0026t0006g0083others(3): Show | 6 | 360 | 0.0167 | 871 | c.170 others(892): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |